A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3624543



Internal ID6664707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:110678696..110682215hg38UCSC Ensembl
Innerchr10:110678696..110682215hg38UCSC Ensembl
Outerchr10:110678483..110682463hg38UCSC Ensembl
chr10:112438454..112441973hg19UCSC Ensembl
Innerchr10:112438454..112441973hg19UCSC Ensembl
Outerchr10:112438241..112442221hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg383520
hg193520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13935559, essv13935556, essv13935558, essv13935557
SamplesNA18995, NA19917, NA18986, NA18534
Known GenesRBM20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3624543
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer